Gastrointestinal Cancer Genetics Program

Illustration of DNA and microscope

Program Overview

The Gastrointestinal Cancer Genetics program at Penn Medicine is dedicated to caring for individuals and families who have, or are at risk for, a hereditary gastrointestinal cancer and/or colon polyps. This includes patients with a personal or family history of pancreatic cancercolon cancer and gastric cancer

We offer state-of-the-art cancer risk evaluation, genetic counseling, genetic testing and medical care from an expert clinical team. Our physician specialists, genetic counselors and researchers provide their patients with the most current options for evaluating and managing cancer risk.

There are rapid advancements in research and knowledge in the field of cancer genetics. In addition to participating in research, our clinical team participates in ongoing education and values internal collaboration, meeting regularly with other cancer specialists at Penn. 

Our clinical team members also participate in professional societies, both national and international, dedicated to cancer and cancer genetics.

Gastrointestinal Cancer Genetics Services 

Gastrointestinal Cancer Risk Evaluation Program (GI-CREP)

Are you concerned that you are at increased risk for gastrointestinal cancer (including colon, pancreatic, and/or gastric cancer) or polyposis based on your personal and/or family history?

Example of genetic pedigree chart

Our Gastrointestinal Cancer Risk Evaluation Program offers patients potentially at an increased risk of developing gastrointestinal polyps and/or gastrointestinal cancer:

  • a comprehensive evaluation of their personal and family medical history
  • a discussion of genetic testing options
  • genetic testing (if applicable) 
  • a plan for managing risk

Gastrointestinal Cancer Genetics Clinic 

Do you already have a diagnosis of a hereditary gastrointestinal cancer or polyposis syndrome and want to establish ongoing medical care with an expert physician who specializes in these syndromes?

Our physician specialists provide personalized, comprehensive care for their patients who have been diagnosed with a hereditary gastrointestinal cancer or polyposis syndrome, often collaborating with other specialists at Penn—including colorectal surgeons and medical oncologists. 

New patients can start medical care by requesting an appointment online or calling the Gastroenterology Scheduling Office (215-349-8222). 

Conditions Treated

Our clinical team specializes in treating hereditary gastrointestinal cancer or polyposis syndromes, including:

  • Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer aka 'HNPCC')
  • Familial adenomatous polyposis (FAP)
  • MUTYH-associated polyposis (MAP)
  • Peutz-Jeghers syndrome (PJS)
  • Juvenile polyposis syndrome (JPS)
  • Hereditary diffuse gastric cancer syndrome (HDGC)
  • Serrated polyposis syndrome (SPS)
  • Polymerase proofreading associated polyposis (PPAP)
  • Hereditary mixed polyposis syndrome (HMPS)
  • Hereditary pancreatitis

Additionally, our team assists in the management of gastrointestinal cancer risk associated with:

  • Hereditary breast and ovarian cancer syndrome
  • Li-Fraumeni syndrome
  • PTEN hamartoma tumor syndrome (aka 'PHTS' or 'Cowden syndrome')

Additional Screening 

We also offer patients access to additional procedures, screening and surveillance tests, including:

  • Advanced endoscopic procedures, including device-assisted deep enteroscopy, endoscopic ultrasound (EUS) and endoscopic retrograde cholangio-pancreatography (ERCP)
  • Standard endoscopic procedures (upper endoscopy and colonoscopy)
  • Advanced gastrointestinal imaging (capsule endoscopy)
  • Radiologic imaging